HGVS | Genome Assembly |
---|---|
NC_000001.11:g.10973139G= , CM000663.2:g.10973139G= | GRCh38 |
NC_000001.10:g.11033196G= , CM000663.1:g.11033196G= | GRCh37 |
NC_000001.9:g.10955783G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377004.9:c.127+3017C= MANE Select | ENSP00000366203.4:n.127+3017C= | |
ENST00000377004.8:c.127+3017C= | ENSP00000366203.4:n.127+3017C= | |
ENST00000520253.1:c.60+3017C= | ||
NM_001170754.1:c.127+3017C= | NP_001164225.1:n.127+3017C= | |
NM_001170754.2:c.127+3017C= MANE Select | NP_001164225.1:n.127+3017C= |